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The EU-funded EPERMED project has developed innovative tools and techniques to create gene maps of individuals in order to calculate their genetic risk of developing conditions such as heart disease, diabetes or cancer. The approach, which can be scaled affordably to the population level, will enable people to adopt lifestyle changes and take preventive action to protect their health, while providing doctors with essential information to prescribe more effective treatments and save lives.
‘This personalised prevention approach based on individual genome information should engage people to take care of their own health much more than traditional appeals from doctors ‘to eat less and run more’. In this way, we could have a meaningful impact on the health of the population, improve citizens’ quality of life and reduce healthcare costs,’ says EPERMED coordinator Andres Metspalu, head of the Estonian Biobank at the University of Tartu.
The Estonian government is now offering free DNA tests to 150 000 people, more than10 % of Estonia’s population. The data will be included in the Estonian Biobank and analysed for 700 000 gene mutations linked to medical conditions, with the results available to participants and authorised healthcare providers. Up to 60 000 more people are expected to submit samples to the biobank in 2019.
The unprecedented large-scale genetic testing has been made possible by a novel, low-cost approach implemented in the EPERMED project. First, a relatively small sample of the population, around 2 500 people, had their whole genome sequenced in full – an expensive, time-consuming and data-intensive process.
Then a much larger number of people provide DNA samples that are analysed using a test known as an SNP array. This looks for the most frequent types of variation in the genome to provide a gene map of risk factors.
Affordable approach
‘It is a poor man’s sequence of the genome,’ Metspalu says. ‘It means that in Estonia, for each person who provides a sample to the biobank, we can extract their DNA and genotype it using an SNP array – all for just EUR 50. This low cost allows a large part of the population to be covered – a prerequisite for providing health benefits at the population scale.’
The genotyping data and the personal risk scores for each person are stored in the biobank database which is accessible to each participant as well as primary care providers and specialist physicians, provided they have been granted the right to see it.
Besides encouraging participants to adopt healthier lifestyles or take preventive medication based on early warnings about their risk factors, the database will enable doctors to prescribe more effective drugs and therapies. It will also flag people who are likely to suffer adverse reactions to certain medications, preventing potentially life-threatening treatment complications.
Genomics-guided testing
Initially, the data will be used primarily to identify risk factors for common conditions such as cardiovascular disease, with initial test results currently being validated in an ongoing clinical study at two Estonian hospitals. Type 2 diabetes will also be screened for, as will breast cancer risk factors in women under 50 who are currently not routinely tested.
In EPERMED, rare diseases have also been considered. The researchers tested individuals for familiar hypercholesterolemia, a genetic disorder affecting around 0.5 % of Europeans, which causes raised cholesterol levels but usually no symptoms.
In a genetic analysis of study participants and their family members, the EPERMED team uncovered a substantial number of people with the condition who had not been diagnosed using traditional techniques. These individuals are now being given preventive medication in the form of statin therapy to reduce their risk of early-onset heart disease and other complications.
‘The results of the project highlight the power of genomics-guided testing as a tool to facilitate effective and affordable preventive clinical care,’ Metspalu says. ‘In addition to the immediate research and clinical applications, we are working with industrial partners to invest more in gene-mapping technologies and artificial intelligence tools. We are taking advantage of Estonia’s unique IT, legal and ethical landscape and our highly skilled scientists to develop new drug-discovery approaches and expand healthcare innovations.’
In July 2018, the University of Tartu decided to add the Estonian Biocentre to the Estonian Genome Center, which includes the Estonian Biobank, as part of its new Institute of Genomics. In 2018, the Estonian Genome Center also joined the Nordic Precision Medicine Initiative (NPMI), which includes Norway, Sweden, Denmark, Finland and Iceland.
‘NPMI brings the whole of Scandinavia into our network,’ Metspalu says. ‘Nordic countries have excellent biobanks. Denmark and Finland have strong biomedical science and personal medicine initiatives, while Finland and Iceland boast strong industrial connections. This is the most logical network to join.’